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New Variants Involved in Taybi-Linder Syndrome (NewViTALS)

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ClinicalTrials.gov Identifier: NCT03222947
Recruitment Status : Not yet recruiting
First Posted : July 19, 2017
Last Update Posted : July 19, 2017
Sponsor:
Information provided by (Responsible Party):
Hospices Civils de Lyon

Brief Summary:

Taybi-Linder syndrome (TALS, OMIM 210710) is a rare autosomal recessive disorder belonging to the group of microcephalic osteodysplastic primordial dwarfisms (MOPD). This syndrome is characterized by short stature, skeletal anomalies, severe microcephaly with brain malformations and facial dysmorphism, and is caused by mutations in RNU4ATAC. Although RNU4ATAC-associated TALS is a recognizable phenotype, an atypical presentation is sometimes observed, thus expanding the clinical spectrum (TALS-like phenotype).

This study aims to identify new variants involved in Taybi-Linder syndrome and associated phenotypes (i.e.TALS-like).

This non interventional study will be performed on patients with no proven mutation of RNU4ATAC and their blood relatives (19 samples total) by high throughput sequencing and genetic analysis of already collected deoxyribonucleic acid samples.

Altogether, such a study will allow a better understanding of the molecular mechanisms responsible for the Taybi-Linder syndrome and Taybi-Linder syndrome-like phenotypes as well as the pathophysiology of these devastating forms of microcephalic dwarfism.


Condition or disease Intervention/treatment
Taybi Linder Syndrome Genetic Syndrome Genetic: Deoxyribonucleic acid analysis

Study Type : Observational
Estimated Enrollment : 19 participants
Observational Model: Cohort
Time Perspective: Retrospective
Official Title: Identification of New Genes Involved in the Taybi-Linder Syndrome.
Estimated Study Start Date : September 2017
Estimated Primary Completion Date : May 2018
Estimated Study Completion Date : June 2018


Group/Cohort Intervention/treatment
Taybi-Linder index cases
Taybi-Linder index cases who have already consented for the (re)use of their DNA samples for medical research.
Genetic: Deoxyribonucleic acid analysis
This study consists in the high throughput exome sequencing and subsequent genetic bio-analysis of 19 deoxyribonucleic acid samples from 6 families, already collected and consented, including patients diagnosed with a Taybi-Linder syndrome and their relatives (parents and/or siblings).

Blood relatives of Taybi-Linder index cases
Blood relatives of Taybi-Linder index cases who have already consented for the (re)use of their DNA samples for medical research.
Genetic: Deoxyribonucleic acid analysis
This study consists in the high throughput exome sequencing and subsequent genetic bio-analysis of 19 deoxyribonucleic acid samples from 6 families, already collected and consented, including patients diagnosed with a Taybi-Linder syndrome and their relatives (parents and/or siblings).




Primary Outcome Measures :
  1. Identification of new variants involved in the Taybi-Linder syndrome [ Time Frame: Collection at time of diagnosis = less than one day ]
    A genetic high throughput exome capture sequencing of 19 deoxyribonucleic acid samples from patients diagnosed with a Taybi-Linder like syndrome and their blood relatives


Biospecimen Retention:   Samples With DNA
Deoxyribonucleic acid of patients obtained either from blood samples (lymphocytes) or foetal tissue sampling


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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients diagnosed with a Taybi-Linder or Taybi-Linder like syndrome and their blood relatives.
Criteria

Inclusion Criteria:

  • foetus or young children diagnosed with a Taybi-Linder or Taybi-Linder like syndrome, with no RNU4ATAC mutation (index case)
  • aged 20 weeks pregnant to 18 years old
  • parents or sibling of the index cases, with informed consent for the analysis of both their DNA sample and the one of the index case.

Exclusion Criteria:

  • no informed consent for the use of genetic samples for medical research

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03222947


Contacts
Contact: Audrey PUTOUX, MCU-PH 04 27 85 50 83 ext +33 audrey.putoux@chu-lyon.fr
Contact: Charles EDERY, PU-PH 04 27 85 55 73 ext +33 charles.edery@chu-lyon.fr

Locations
France
Service de Génétique Clinique, Groupement Hospitalier Est, Hospices Civils de Lyon Not yet recruiting
Lyon, France, 69677
Contact: Audrey PUTOUX, MCU-PH    04 27 85 50 83 ext +33    audrey.putoux@chu-lyon.fr   
Contact: Charles EDERY, PU-PH    04 27 85 55 73 ext +33    charles.edery@chu-lyon.fr   
Principal Investigator: Audrey PUTOUX, MCU-PH         
Sponsors and Collaborators
Hospices Civils de Lyon

Responsible Party: Hospices Civils de Lyon
ClinicalTrials.gov Identifier: NCT03222947     History of Changes
Other Study ID Numbers: 69HCL16_0774
First Posted: July 19, 2017    Key Record Dates
Last Update Posted: July 19, 2017
Last Verified: July 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Additional relevant MeSH terms:
Microcephaly
Syndrome
Dwarfism
Fetal Growth Retardation
Osteochondrodysplasias
Disease
Pathologic Processes
Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases
Genetic Diseases, Inborn
Endocrine System Diseases
Fetal Diseases
Pregnancy Complications
Growth Disorders
Craniofacial Abnormalities
Musculoskeletal Abnormalities
Malformations of Cortical Development, Group I
Malformations of Cortical Development
Nervous System Malformations
Nervous System Diseases
Congenital Abnormalities